General stats about the patient cohort
| Stat | Value |
|---|---|
| Unique HPO terms | 62 |
| Cohort size | 27 |
| Rejected patients by empty profile | 0 |
| HPOs per patient (average) | 25.2593 |
| HPO terms per patient: percentile 90 | 15 |
| Percentage of HPO with more specific children | 52.7859 |
| DsI for uniq HP terms | 0.2763502884111169 |
| DsI for frequency weigthed HP terms | 1.0666538670762538 |
| Number of unknown phenotypes | 0 |
| Number of clusters with mutations accross > 1 chromosomes | 0 |
| Average variant size | 51524.0 |
| Nucleotides affected by mutations | 51524 |
| Number of genome windows | 1 |
| Mean patients per genome window | 27.0 |
| Number of genome window shared by >= 2 patients | 1 |
| Number of patients with at least 1 SOR | 27 |
| Nucleotides affected by mutations | 51524 |
HPOs more frequent in the cohort
| HPO | Patient percentage |
|---|---|
| Cerebellar atrophy | 100.0 |
| Upslanted palpebral fissure | 88.88888888888889 |
| High, narrow palate | 85.18518518518519 |
| Strabismus | 81.48148148148148 |
| Narrow nasal bridge | 74.07407407407408 |
| Anteverted nares | 74.07407407407408 |
| Peripheral neuropathy | 70.37037037037037 |
| Hypertelorism | 70.37037037037037 |
| Wide mouth | 70.37037037037037 |
| Long fingers | 70.37037037037037 |
| Cone-shaped epiphyses of the phalanges of the hand | 66.66666666666666 |
| Long foot | 66.66666666666666 |
| Intention tremor | 62.96296296296296 |
| Limb dysmetria | 62.96296296296296 |
| Joint laxity | 62.96296296296296 |
| Lipodystrophy | 62.96296296296296 |
| Nystagmus | 59.25925925925925 |
| Long philtrum | 59.25925925925925 |
| Long face | 55.55555555555556 |
| Thin upper lip vermilion | 55.55555555555556 |
| Abnormality of the coagulation cascade | 51.85185185185185 |
| Prominent forehead | 51.85185185185185 |
| Inverted nipples | 51.85185185185185 |
| Pes planus | 51.85185185185185 |
| Pigmentary retinopathy | 48.148148148148145 |
| Scoliosis | 48.148148148148145 |
| Inability to walk | 44.44444444444444 |
| Almond-shaped palpebral fissure | 40.74074074074074 |
| Intellectual disability, mild | 40.74074074074074 |
| Stereotypy | 40.74074074074074 |
| Intellectual disability, moderate | 37.03703703703704 |
| Intellectual disability, severe | 37.03703703703704 |
| Failure to thrive in infancy | 33.33333333333333 |
| Epicanthus | 33.33333333333333 |
| Abnormality of the dentition | 33.33333333333333 |
| Hypogonadotropic hypogonadism | 33.33333333333333 |
| Mandibular prognathia | 33.33333333333333 |
| Autistic behavior | 33.33333333333333 |
| Protein-losing enteropathy | 29.629629629629626 |
| Low-set ears | 25.925925925925924 |
| Stroke-like episode | 22.22222222222222 |
| Retrognathia | 22.22222222222222 |
| Ataxia | 22.22222222222222 |
| Behavioral abnormality | 18.51851851851852 |
| Osteoporosis | 18.51851851851852 |
| Hypoglycemia | 18.51851851851852 |
| Attention deficit hyperactivity disorder | 18.51851851851852 |
| Osteopenia | 18.51851851851852 |
| Seizure | 18.51851851851852 |
| Coarse facial features | 18.51851851851852 |
| Cryptorchidism | 18.51851851851852 |
| Acute promyelocytic leukemia | 14.814814814814813 |
| Hirsutism | 14.814814814814813 |
| Prominent nose | 14.814814814814813 |
| Wide intermamillary distance | 14.814814814814813 |
| Abnormality of the pinna | 14.814814814814813 |
| Intellectual disability, borderline | 11.11111111111111 |
| Intellectual disability | 7.4074074074074066 |
| Macrotia | 7.4074074074074066 |
| Brain atrophy | 3.7037037037037033 |
| Lymphedema | 3.7037037037037033 |
| Pericardial effusion | 3.7037037037037033 |
Distribution of the genome coverage of all mutations characterized in the cohort. Second figure shows the same results for SORs.
Analysis of the HPO terms within the HPO ontology and the cohort of patients. Left: distribution of terms within the ontology and the cohort. Right: percentage of terms distribution within the ontology and the cohort.
HPOs frequency distribution. Colour based on the HPO frequency.
All patients are clustered using their HPO profiles. First figure shows the information coefficient distribution for the top clusters. Second figure shows which chromosomes are affected in the patients for each top cluster.
For each patient profile size (number of phenotypes, x-axis) it is shown the number of HPO phenotypes that are parent of other terms within the profile (number of parent terms, y-axis).
First figure shows the ICs distribution in terms of the HP ontology (x-axis) and for each single HPO term, its frequency in the cohort according to the HP ontology structure (y-axis) and the second figure shows the same distributions considering the profiles analyzed.
For each patient, their HPO profile similarity coefficient is calculated according to the different methods specified in the analysis and represented in these heatmaps.
